关键词: 突变, 序列分析, DNA, Sjogren-Larsson综合征, 痉挛性截瘫, ALDH3A2基因

Abstract: 【Abstract】 Objective To detect pathogenic mutations in 2 patients with Sjogren-Larsson syndrome. Methods Clinical data were collected from 2 children with Sjogren-Larsson syndrome, who were diagnosed and treated in Department of Dermatology, Capital Institute of Pediatrics, and genetic testing was performed to clarify their pathogenic mutations. Results Both the 2 patients presented with typical ichthyosis-like skin manifestations, accompanied by a certain degree of intellectual disorder and growth, development and motor retardation. A previously reported homozygous mutation c.1157A>G was identified in the ALDH3A2 gene in case 1; compound heterozygous mutations c.1157A>G and c.1309A>T were identified in the ALDH3A2 gene in case 2, which were considered as novel pathogenic mutations. Conclusion Genetic testing should be performed as early as possible in patients with suspected Sjogren-Larsson syndrome, in order to facilitate early definite diagnosis.

Key words: Mutation, Sequence analysis, DNA, Sjogren-Larsson syndrome, Spastic paraplegia, ALDH3A2 gene